Phenotype: abnormal heart left ventricle morphology

Definition any structural anomaly of the left lower chamber of the heart

Synonyms
  • LV abnormality
  • LV abnormality
  • abnormal left ventricle morphology
  • abnormal left ventricle morphology
  • abnormal LV
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Related
Synonyms
  • Subvalvular aortic stenosis
  • Subvalvular aortic stenosis
  • aortic valve stenosis
  • aortic valve stenosis
  • muscular subaortic stenosis
  • decreased heart left ventricle size
  • Aortic valve stenosis
  • aortic valve prolapse
  • Aortic valve calcification
  • dilated heart left ventricle
  • patent aortic valve
  • heart left ventricle aneurysm
  • increased left ventricle weight
  • heart left ventricle hypertrophy
  • heart left ventricle outflow tract stenosis
  • Aortic valve atresia
  • abnormal aortic valve cusp morphology
  • increased left ventricle weight
  • Muscular subvalvular aortic stenosis
  • decreased heart left ventricle weight
  • abnormal heart left ventricle size
  • Muscular subvalvular aortic stenosis
  • Aortic valve stenosis
  • aortic valve stenosis
  • Dysplastic aortic valve
  • enlarged aortic valve
  • Aortic valve stenosis
  • increased heart left ventricle size
  • abnormal aortic valve morphology
  • calcified aortic valve
  • abnormal heart left ventricle weight
  • Abnormal aortic valve cusp morphology
  • aortic valve stenosis
  • Membranous subvalvular aortic stenosis
  • left ventricle to aorta tunnel
  • Membranous subvalvular aortic stenosis
  • abnormal aortic valve anulus morphology
  • heart left ventricle hypoplasia
  • aortic valve atresia
  • muscular subaortic stenosis
  • decreased heart left ventricle weight
  • abnormal heart left ventricle outflow tract morphology
  • Left ventricular hypertrophy
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Phenotype associations stats

3.55% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal heart left ventricle morphology (43/1212)

3.34% females (40/1199) 3.88% males (36/929)

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Gene variants with abnormal heart left ventricle morphology

Total number of significant genotype-phenotype associations: 82

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value Data
Wfdc11
Wfdc11em1(IMPC)Marc
HOM Female Male postnatal abnormal heart left ventricle morphology Echo | LVIDd MARC | IMPC 6.73E-29
Alpk3
Alpk3tm1b(EUCOMM)Hmgu
HOM Female postnatal dilated heart left ventricle Echo | End-Systolic Diameter MRC Harwell | IMPC 3.15E-21
Wfdc11
Wfdc11em1(IMPC)Marc
HOM Female Male postnatal increased heart left ventricle size Echo | LVAWd MARC | IMPC 5.19E-12
Ints6l
Ints6lem1(IMPC)Marc
HEM Male postnatal dilated heart left ventricle Echo | LVIDs MARC | IMPC 8.61E-9
Bbs5
Bbs5tm1b(EUCOMM)Wtsi
HOM Female postnatal abnormal heart left ventricle morphology Echo | End-Diastolic Diameter MRC Harwell | IMPC 2.25E-8
Suv39h2
Suv39h2em1(IMPC)Marc
HOM Male postnatal decreased heart left ventricle size Echo | LVAWd MARC | IMPC 2.45E-8
Ints6l
Ints6lem1(IMPC)Marc
HEM Male postnatal decreased heart left ventricle size Echo | LVPWs MARC | IMPC 4.08E-8
Alpk3
Alpk3tm1b(EUCOMM)Hmgu
HOM Female postnatal increased heart left ventricle size Echo | LVAWd MRC Harwell | IMPC 8.71E-8
Prdm4
Prdm4tm1b(EUCOMM)Hmgu
HOM Female postnatal abnormal heart left ventricle morphology Echo | LVIDd MRC Harwell | IMPC 3.61E-7
Ints6l
Ints6lem1(IMPC)Marc
HOM Female postnatal decreased heart left ventricle size Echo | LVAWd MARC | IMPC 3.83E-7
Phf21b
Phf21bem1(IMPC)Marc
HOM Female Male postnatal decreased heart left ventricle size Echo | LVAWd MARC | IMPC 4.04E-7
Col1a2
Col1a2tm1b(EUCOMM)Wtsi
HOM Female Male postnatal dilated heart left ventricle Echo | LVIDd BCM | IMPC 2.24E-6
Mapkap1
Mapkap1tm1b(EUCOMM)Wtsi
HET Female Male postnatal dilated heart left ventricle Echo | LVIDs BCM | IMPC 2.84E-6
Fbxo10
Fbxo10tm1b(KOMP)Wtsi
HOM Female Male postnatal dilated heart left ventricle Echo | LVIDs MARC | IMPC 4.84E-6
Klhl29
Klhl29tm1b(EUCOMM)Hmgu
HOM Male postnatal abnormal heart left ventricle morphology Echo | LVIDs ICS | IMPC 5.75E-6
Ube2z
Ube2zem1(IMPC)Marc
HET Female Male postnatal decreased heart left ventricle size Echo | LVAWd MARC | IMPC 6.25E-6
Prmt6
Prmt6em1(IMPC)Marc
HOM Female Male postnatal decreased heart left ventricle size Echo | LVAWd MARC | IMPC 6.28E-6
Yae1d1
Yae1d1tm1b(EUCOMM)Hmgu
HET Female Male postnatal abnormal heart left ventricle morphology Echo | LVIDd HMGU | IMPC 8.28E-6
Aoc1
Aoc1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal abnormal heart left ventricle morphology Echo | LVIDs HMGU | IMPC 9.92E-6
Vav2
Vav2em1(IMPC)Marc
HOM Female Male postnatal decreased heart left ventricle size Echo | LVAWd MARC | IMPC 1.01E-5
Dnase1l2
Dnase1l2tm1.1(KOMP)Wtsi
HOM Female Male postnatal abnormal heart left ventricle morphology Echo | LVIDd ICS | IMPC 1.07E-5
Rnf10
Rnf10em1(IMPC)Bay
HOM Female Male postnatal increased heart left ventricle size Echo | LVAWd BCM | IMPC 1.16E-5
Abhd3
Abhd3em1(IMPC)Marc
HOM Female Male postnatal dilated heart left ventricle Echo | LVIDs MARC | IMPC 1.19E-5
Kdm2b
Kdm2bem1(IMPC)Marc
HET Female Male postnatal decreased heart left ventricle size Echo | LVAWd MARC | IMPC 1.19E-5
Dsg2
Dsg2tm1b(EUCOMM)Wtsi
HOM Female Male postnatal dilated heart left ventricle Echo | End-Systolic Diameter BCM | IMPC 1.28E-5
Aars2
Aars2tm1(KOMP)Wtsi
HET Female postnatal abnormal heart left ventricle morphology Echo | LVIDd MARC | IMPC 1.28E-5
Gsdmd
Gsdmdem1(IMPC)Marc
HOM Female Male postnatal dilated heart left ventricle Echo | LVIDs MARC | IMPC 1.55E-5
Adprm
Adprmtm1b(EUCOMM)Hmgu
HOM Female Male postnatal abnormal heart left ventricle morphology Echo | LVIDd HMGU | IMPC 1.58E-5
Ccdc83
Ccdc83em1(IMPC)Marc
HOM Female Male postnatal decreased heart left ventricle size Echo | LVAWd MARC | IMPC 1.74E-5
Sirt1
Sirt1tm1b(EUCOMM)Wtsi
HET Female postnatal abnormal heart left ventricle morphology Echo | LVIDd MRC Harwell | IMPC 2.03E-5
Pard3b
Pard3btm1b(EUCOMM)Wtsi
HOM Male postnatal abnormal heart left ventricle morphology Echo | LVIDs HMGU | IMPC 2.69E-5
Fbxo22
Fbxo22tm1b(EUCOMM)Wtsi
HET Female Male postnatal decreased heart left ventricle size Echo | LVAWd MARC | IMPC 2.71E-5
Rnf144b
Rnf144btm1b(EUCOMM)Hmgu
HOM Female postnatal abnormal heart left ventricle morphology Echo | LVIDs ICS | IMPC 2.83E-5
Rnf144b
Rnf144btm1b(EUCOMM)Hmgu
HOM Male postnatal dilated heart left ventricle Echo | LVIDs ICS | IMPC 2.83E-5
Esr2
Esr2em1(IMPC)Marc
HOM Female Male postnatal decreased heart left ventricle size Echo | LVAWd MARC | IMPC 3.36E-5
Gsdmd
Gsdmdem1(IMPC)Marc
HOM Female Male postnatal decreased heart left ventricle size Echo | LVPWs MARC | IMPC 3.61E-5
Aak1
Aak1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal abnormal heart left ventricle morphology Echo | LVIDd ICS | IMPC 3.71E-5
Scaper
Scapertm1b(EUCOMM)Hmgu
HOM Female postnatal abnormal heart left ventricle morphology Echo | LVIDs ICS | IMPC 3.81E-5
Leprotl1
Leprotl1tm1b(EUCOMM)Hmgu
HOM Female postnatal abnormal heart left ventricle morphology Echo | End-Systolic Diameter MRC Harwell | IMPC 4.1E-5
Ufc1
Ufc1em1(IMPC)Marc
HET Female Male postnatal abnormal heart left ventricle morphology Echo | LVIDs MARC | IMPC 4.44E-5
Wsb2
Wsb2tm1b(EUCOMM)Hmgu
HOM Female Male postnatal dilated heart left ventricle Echo | LVIDs HMGU | IMPC 5.01E-5
Map3k10
Map3k10tm1b(EUCOMM)Hmgu
HOM Female Male postnatal decreased heart left ventricle size Echo | LVPWs HMGU | IMPC 5.45E-5
Siva1
Siva1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal decreased heart left ventricle size Echo | LVPWs HMGU | IMPC 5.81E-5
Ap1ar
Ap1artm2b(EUCOMM)Hmgu
HOM Female Male postnatal dilated heart left ventricle Echo | End-Diastolic Diameter BCM | IMPC 5.87E-5
Itm2c
Itm2ctm1b(EUCOMM)Wtsi
HET Female Male postnatal abnormal heart left ventricle morphology Echo | LVIDs HMGU | IMPC 6.11E-5
Hilpda
Hilpdaem1(IMPC)Mhzh
HOM Female Male postnatal decreased heart left ventricle size Echo | LVPWs MARC | IMPC 7.14E-5
Trim37
Trim37em1(IMPC)Marc
HOM Female Male postnatal decreased heart left ventricle size Echo | LVPWs MARC | IMPC 7.33E-5
Ppp2r5e
Ppp2r5eem1(IMPC)Marc
HOM Female Male postnatal decreased heart left ventricle size Echo | LVAWd MARC | IMPC 7.97E-5
Gpr39
Gpr39em1(IMPC)Bay
HOM Female Male postnatal dilated heart left ventricle Echo | LVIDd BCM | IMPC 9.68E-5

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